Works matching DE "LI-Fraumeni syndrome"

Results: 306

Li-Fraumeni syndrome – a case report.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 4, p. 362, doi. 10.2298/VSP211102036S

By:

Šarac, Sanja;
Krsmanović, Željko;
Milić, Rade;
Radević, Tatjana;
Lazović-Popović, Biljana;
Vasiljević, Mira;
Šarac, Momir

Publication type:

Article

Cancer risk in carriers of TP53 germline variants grouped into different functional categories.

Published in:

JNCI Cancer Spectrum, 2025, v. 9, n. 1, p. 1, doi. 10.1093/jncics/pkaf008

By:

Müntnich, Lucas John;
Dutzmann, Christina M;
Großhennig, Anika;
Härter, Valentina;
Keymling, Myriam;
Mastronuzzi, Angela;
Montellier, Emilie;
Nees, Juliane;
Palmaers, Natalie E;
Penkert, Judith;
Pfister, Stefan M;
Ripperger, Tim;
Schott, Sarah;
Silchmüller, Farina;
Hainaut, Pierre;
Kratz, Christian P

Publication type:

Article

Pilot Study Assessing Tolerability and Metabolic Effects of Metformin in Patients With Li-Fraumeni Syndrome.

Published in:

JNCI Cancer Spectrum, 2020, v. 4, n. 6, p. 1, doi. 10.1093/jncics/pkaa063

By:

Walcott, Farzana L;
Wang, Ping-Yuan;
Bryla, Christine M;
Huffstutler, Rebecca D;
Singh, Neha;
Pollak, Michael N;
Khincha, Payal P;
Savage, Sharon A;
Mai, Phuong L;
Dodd, Kevin W;
Hwang, Paul M;
Fojo, Antonio T;
Annunziata, Christina M

Publication type:

Article

Is There a Duty to Warn Parents of a Cancer-Causing Genetic Mutation?

Published in:

2018

By:

Tarzian, Anita J.

Publication type:

Case Study

Duty to Warn in the Era of Next Generation Sequencing.

Published in:

American Journal of Bioethics, 2018, v. 18, n. 7, p. 79, doi. 10.1080/15265161.2018.1478045

By:

Latham Schwark, Alicia;
Walsh, Michael F.

Publication type:

Article

Disclosure of Genetic Risk: When Genetic Relatives Are Not Family Members.

Published in:

American Journal of Bioethics, 2018, v. 18, n. 7, p. 77, doi. 10.1080/15265161.2018.1478037

By:

Gabriel, Jazmine L.;
Jankowski, Jane

Publication type:

Article

Assessing Duty to Warn in Donated Embryos.

Published in:

American Journal of Bioethics, 2018, v. 18, n. 7, p. 75, doi. 10.1080/15265161.2018.1478038

By:

Allyse, Megan;
Rust, Laura

Publication type:

Article

Li-Fraumeni syndrome.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 8, p. 608, doi. 10.3969/j.issn.1672-6731.2018.08.009

By:

ZHANG Xue-bin;
YAN Xiao-ling;
JIN Shu-mei;
TANG Fan;
HAN Zhu-yu

Publication type:

Article

Oncological Follow-up with 2-[<sup>18</sup>F]-FDG PET/CT in Li-Fraumeni Syndrome.

Published in:

Molecular Imaging & Radionuclide Therapy, 2021, v. 30, n. 2, p. 110, doi. 10.4274/mirt.galenos.2020.33255

By:

Hernandez, Marylin Acuña;
Vega Gonzalez, Iván Fabricio;
Vélez, Lina López;
Arango, Catalina Melo

Publication type:

Article

Melanoma and Li−Fraumeni syndrome: family history is not essential for screening recommendation.

Published in:

Clinical & Experimental Dermatology, 2021, v. 46, n. 8, p. 1567, doi. 10.1111/ced.14748

By:

Regan, H.;
Marren, P.

Publication type:

Article

Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician.

Published in:

2011

By:

Teplick, Alexis;
Kowalski, Megan;
Biegel, Jaclyn A.;
Nichols, Kim E.

Publication type:

journal article

A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome.

Published in:

Pediatric Hematology & Oncology, 2018, v. 35, n. 3, p. 203, doi. 10.1080/08880018.2018.1502852

By:

Doyle, Meagan R.;
Johnston, J. Martin

Publication type:

Article

Multiple Metachronous Osteosarcomas in a Patient with Li-Fraumeni Syndrome.

Published in:

Pediatric Hematology & Oncology, 2014, v. 31, n. 4, p. 359, doi. 10.3109/08880018.2013.848388

By:

Zils, Katja;
Wirth, Thomas;
Loff, Steffan;
Biskup, Saskia;
von Kalle, Thekla;
Bielack, Stefan

Publication type:

Article

TP53 p.R337H Germline Variant among Women at Risk of Hereditary Breast Cancer in a Public Health System of Midwest Brazil.

Published in:

Genes, 2024, v. 15, n. 7, p. 928, doi. 10.3390/genes15070928

By:

Corrêa, Tatiana Strava;
Asprino, Paula Fontes;
de Oliveira, Eduarda Sabá Cordeiro;
Leite, Ana Carolina Rathsam;
Weis, Luiza;
Achatz, Maria Isabel;
de Oliveira, Claudiner Pereira;
Sandoval, Renata Lazari;
Barroso-Sousa, Romualdo

Publication type:

Article

Unaffected Li-Fraumeni Syndrome Carrier Parent Demonstrates Allele-Specific mRNA Stabilization of Wild-Type TP53 Compared to Affected Offspring.

Published in:

Genes, 2022, v. 13, n. 12, p. 2302, doi. 10.3390/genes13122302

By:

Buzby, Jeffrey S.;
Williams, Shirley A.;
Nugent, Diane J.

Publication type:

Article

Clinical Course, Genetic, and Immunohistochemical Characterization of Solid Pseudopapillary Tumor of the Pancreas (Frantz Tumors) in a Brazilian Cohort.

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101809

By:

Tostes, Francinne T.;
de Carvalho, Parisina Fraga Dutra Cabral;
Araújo, Raphael L. C.;
Ribeiro, Rodrigo Chaves;
Apodaca-Torrez, Franz Robert;
Lobo, Edson José;
Gomes, Diogo Bugano Diniz;
Callegaro-Filho, Donato;
Schvartsman, Gustavo;
Moura, Fernando;
Schraibman, Vladimir;
Goldenberg, Alberto;
de Lima, Fernanda Teresa;
Segatelli, Vanderlei;
Uson Junior, Pedro Luiz Serrano

Publication type:

Article

Hereditary Gynecologic Cancer Syndromes – A Narrative Review.

Published in:

OncoTargets & Therapy, 2022, v. 15, p. 381, doi. 10.2147/OTT.S353054

By:

Kostov, Stoyan;
Watrowski, Rafał;
Kornovski, Yavor;
Dzhenkov, Deyan;
Slavchev, Stanislav;
Ivanova, Yonka;
Yordanov, Angel

Publication type:

Article

Additional germline findings from a tumor profiling program.

Published in:

BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0383-5

By:

Stjepanovic, Neda;
Stockley, Tracy L.;
Bedard, Philippe L.;
McCuaig, Jeanna M.;
Aronson, Melyssa;
Holter, Spring;
Semotiuk, Kara;
Leighl, Natasha B.;
Jang, Raymond;
Krzyzanowska, Monika K.;
Oza, Amit M.;
Gupta, Abha;
Elser, Christine;
Ahmed, Lailah;
Wang, Lisa;
Kamel-Reid, Suzanne;
Siu, Lillian L.;
Kim, Raymond H.

Publication type:

Article

Two Clinical Cases of Li-Fraumeni Syndrome and Prostate Cancer: Genetic Counseling and Clinical-Surgical Management.

Published in:

2022

By:

Abad-Carratalà, Guillem;
Blanco-Silvestre, Marc;
Sánchez-Llopis, Anna;
Monsonís-Usó, Rosa;
Martínez-Cadenas, Conrado;
Martínez-Meneu, Pedro;
Amaya-Barroso, Bárbara;
Muñoz-Vicente, Elia;
Garau-Perelló, Carmen;
Ponce-Blasco, Paula;
Barrios-Arnau, Laura;
Bosquet-Sanz, Manuel;
Rodrigo-Aliaga, Miguel

Publication type:

Case Study

Adrenal cortical carcinoma: Paediatric aspects - literature review.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2024, v. 30, n. 2, p. 81, doi. 10.5114/pedm.2024.139271

By:

Dasiewicz, Patrycja;
Moszczyńska, Elżbieta;
Grajkowska, Wiesława

Publication type:

Article

Presentation, diagnosis, and management of the Li-Fraumeni syndrome.

Published in:

Baylor University Medical Center Proceedings, 2022, v. 35, n. 5, p. 678, doi. 10.1080/08998280.2022.2071100

By:

Ogden, John;
Pippen, John

Publication type:

Article

Primary cutaneous angiosarcoma of the breast after breast trauma.

Published in:

Baylor University Medical Center Proceedings, 2012, v. 25, n. 1, p. 70, doi. 10.1080/08998280.2012.11928788

By:

Ying Cao;
Panos, Laura;
Graham, Robbie L.;
Parker III, Thornwell H.;
Mennel, Robert

Publication type:

Article

Li Fraumeni syndrome, cancer and senescence: a new hypothesis.

Published in:

Cancer Cell International, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1475-2867-13-35

By:

Pantziarka, Pan

Publication type:

Article

Molecular characteristics of endometrial cancer coexisting with peritoneal malignant mesothelioma in Li-Fraumeni-like syndrome.

Published in:

BMC Cancer, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12885-015-1010-x

By:

Angel Chao;
Chyong-Huey Lai;
Yun-Shien Lee;
Shir-Hwa Ueng;
Chiao-Yun Lin;
Tzu-Hao Wang

Publication type:

Article

Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: Increased expression of a CD44 variant isoform after chemotherapy.

Published in:

BMC Cancer, 2012, v. 12, n. 1, p. 444, doi. 10.1186/1471-2407-12-444

By:

Yoshida, Go J.;
Fuchimoto, Yasushi;
Osumi, Tomoo;
Shimada, Hiroyuki;
Hosaka, Seichi;
Morioka, Hideo;
Mukai, Makio;
Masugi, Yohei;
Sakamoto, Michiie;
Kuroda, Tatsuo

Publication type:

Article

Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature.

Published in:

BMC Cancer, 2012, v. 12, n. 1, p. 217, doi. 10.1186/1471-2407-12-217

By:

Kast, Karin;
Krause, Mechthild;
Schuler, Markus;
Friedrich, Katrin;
Thamm, Barbara;
Bier, Andrea;
Distler, Wolfgang;
Krüger, Stefan

Publication type:

Article

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.

Published in:

BMC Cancer, 2012, v. 12, n. 1, p. 237, doi. 10.1186/1471-2407-12-237

By:

Silva, Amanda Gonçalves;
Ewald, Ingrid Petroni;
Sapienza, Marina;
Pinheiro, Manuela;
Peixoto, Ana;
de Nóbrega, Amanda França;
Carraro, Dirce M.;
Teixeira, Manuel R.;
Ashton-Prolla, Patricia;
Achatz, Maria Isabel W.;
Rosenberg, Carla;
Krepischi, Ana C.V.

Publication type:

Article

A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromes.

Published in:

2021

By:

Leedman, Nicholas;
Princehorn, Murray;
Gottardo, Nicholas;
Franklin, Claire;
D'Souza, Rebecca;
Kiraly‐Borri, Catherine E;
Kiraly-Borri, Catherine E

Publication type:

Letter

Li-Fraumeni syndrome: A case report.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2014, v. 71, n. 12, p. 1159, doi. 10.2298/VSP1412159I

By:

Ilić, Miroslav P.;
Aleksandar, Kiralj;
Markov, Borislav;
Mijatov, Ivana;
Mijatov, Saša;
Vučković, Nada

Publication type:

Article

Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes.

Published in:

Psycho-Oncology, 2011, v. 20, n. 6, p. 631, doi. 10.1002/pon.1951

By:

Lammens, C. R. M.;
Bleiker, E. M. A.;
Verhoef, S.;
Ausems, M. G. E. M.;
Majoor‐Krakauer, D.;
Sijmons, R. H.;
Hes, F. J.;
Gómez‐García, E. B.;
Van Os, T. A. M.;
Spruijt, L.;
van der Luijt, R. B.;
van den Ouweland, A. M. W.;
Ruijs, M. W. G.;
Gundy, C.;
Nagtegaal, T.;
Aaronson, N. K.

Publication type:

Article

Proton beam therapy causing pericarditis – a rare case of radiation induced cardiotoxicity.

Published in:

2022

By:

Gupta, Rahul;
Lin, Muling;
Freedman, Gary M.;
Sundlof, Deborah W.;
Fadlon, Cheri Silverstein

Publication type:

Letter

Osteosarcoma presenting as ludwig’s angina in a down’s syndrome patient: A case report.

Published in:

2021

By:

Vijapur, Manjunath;
Kattimani, Vasanth;
Varghese, Dhaya Ann;
Ram, Bhargav;
Kumar, Rishikesh;
Naganagoudar, Anuradha

Publication type:

Case Study

Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes.

Published in:

BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/341723

By:

Toss, Angela;
Tomasello, Chiara;
Razzaboni, Elisabetta;
Contu, Giannina;
Grandi, Giovanni;
Cagnacci, Angelo;
Schilder, Russell J.;
Cortesi, Laura

Publication type:

Article

Metformin beyond type 2 diabetes: Emerging and potential new indications.

Published in:

Diabetes, Obesity & Metabolism, 2024, v. 26, p. 31, doi. 10.1111/dom.15756

By:

Petrie, John R.

Publication type:

Article

Metformin beyond type 2 diabetes: Emerging and potential new indications.

Published in:

Diabetes, Obesity & Metabolism, 2024, v. 26, p. 31, doi. 10.1111/dom.15756

By:

Petrie, John R.

Publication type:

Article

Relating to the Body Under Chronic Cancer Threat: Implications for Psychosocial Health Among Adolescents and Young Adults with Cancer Predisposition Syndromes.

Published in:

Journal of Adolescent & Young Adult Oncology, 2025, v. 14, n. 2, p. 151, doi. 10.1089/jayao.2024.0103

By:

Rising, Camella J.;
Forbes Shepherd, Rowan;
Sleight, Alix G.;
Boyd, Patrick;
Wilsnack, Catherine;
Thompson, Ashley S.;
Huelsnitz, Chloe O.;
Hutson, Sadie P.;
Khincha, Payal P.;
Werner-Lin, Allison

Publication type:

Article

Emerging evidence on the role of breast microbiota on the development of breast cancer in high-risk patients.

Published in:

Carcinogenesis, 2023, v. 44, n. 10/11, p. 718, doi. 10.1093/carcin/bgad071

By:

Actis, Silvia;
Cazzaniga, Massimiliano;
Bounous, Valentina Elisabetta;
D'Alonzo, Marta;
Rosso, Roberta;
Accomasso, Francesca;
Minella, Carola;
Biglia, Nicoletta

Publication type:

Article

Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.

Published in:

Carcinogenesis, 2017, v. 38, n. 9, p. 938, doi. 10.1093/carcin/bgx069

By:

Franceschi, Sara;
Spugnesi, Laura;
Aretini, Paolo;
Lessi, Francesca;
Scarpitta, Rosa;
Galli, Alvaro;
Congregati, Caterina;
Caligo, Maria Adelaide;
Mazzanti, Chiara Maria

Publication type:

Article

Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structures.

Published in:

Carcinogenesis, 2014, v. 35, n. 4, p. 807, doi. 10.1093/carcin/bgt381

By:

Sagne, Charlotte;
Marcel, Virginie;
Bota, Maria;
Martel-Planche, Ghyslaine;
Nobrega, Amanda;
Palmero, Edenir Inêz;
Perriaud, Laury;
Boniol, Mathieu;
Vagner, Stephan;
Cox, David G.;
Chan, Chang S.;
Mergny, Jean-Louis;
Olivier, Magali;
Ashton-Prolla, Patricia;
Hall, Janet;
Hainaut, Pierre;
Achatz, Maria Isabel

Publication type:

Article

RECQL4 and p53 potentiate the activity of polymerase γ and maintain the integrity of the human mitochondrial genome.

Published in:

Carcinogenesis, 2014, v. 35, n. 1, p. 34, doi. 10.1093/carcin/bgt315

By:

Gupta, Shruti;
De, Siddharth;
Srivastava, Vivek;
Hussain, Mansoor;
Kumari, Jyoti;
Muniyappa, K.;
Sengupta, Sagar

Publication type:

Article

Human herpes virus 6-associated acute limbic encephalitis in a 7-year-old patient with Li-Fraumeni's syndrome after allogeneic stem cell transplantation.

Published in:

Trends in Transplantation, 2021, v. 14, n. 2, p. 1, doi. 10.15761/TiT.1000295

By:

M. C., Reitz;
L., Porto;
S., Bakhtiar;
A., Jarisch;
E., Rettinger;
J., Sörensen;
A., Willasch;
P., Bader

Publication type:

Article

A rare association of two endocrine tumours: non-functional oncocytic adrenocortical carcinoma and Papillary thyroid carcinoma.

Published in:

Hormone Molecular Biology & Clinical Investigation, 2021, v. 42, n. 2, p. 199, doi. 10.1515/hmbci-2020-0080

By:

Ruiz-Sánchez, Jorge Gabriel;
Parra Ramírez, Paola;
Lisbona Catalán, Arturo

Publication type:

Article

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Published in:

2020

By:

García-Cárdenas, Jennyfer M.;
Zambrano, Ana Karina;
Guevara-Ramírez, Patricia;
Guerrero, Santiago;
Runruil, Gabriel;
López-Cortés, Andrés;
Torres-Yaguana, Jorge P.;
Armendáriz-Castillo, Isaac;
Pérez-Villa, Andy;
Yumiceba, Verónica;
Leone, Paola E.;
Paz-y-Miño, César

Publication type:

journal article

A Pathogenic Mosaic <i>TP53</i> Mutation in Two Germ Layers Detected by Next Generation Sequencing.

Published in:

PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096531

By:

Behjati, Sam;
Maschietto, Mariana;
Williams, Richard D.;
Side, Lucy;
Hubank, Mike;
West, Rebecca;
Pearson, Katie;
Sebire, Neil;
Tarpey, Patrick;
Futreal, Andrew;
Brooks, Tony;
Stratton, Michael R.;
Anderson, John

Publication type:

Article

Increased Oxidative Damage in Carriers of the Germline TP53 p.R337H Mutation.

Published in:

PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047010

By:

Macedo, Gabriel S.;
da Motta, Leonardo Lisbôa;
Giacomazzi, Juliana;
Netto, Cristina B. O.;
Manfredini, Vanusa;
Vanzin, Camila S.;
Vargas, Carmen Regla;
Hainaut, Pierre;
Klamt, Fábio;
Ashton-Prolla, Patricia

Publication type:

Article

THE GORDON WILSON LECTURE EVOLUTION OF CLINICAL CANCER GENETICS.

Published in:

Transactions of the American Clinical & Climatological Association, 2016, v. 127, p. 127

By:

GARBER, JUDY E.

Publication type:

Article

Pancytopenia With Predominant Thrombocytopenia in a 37-Year-Old Female With Li Fraumeni Syndrome.

Published in:

Laboratory Medicine, 2013, v. 44, n. 2, p. e25, doi. 10.1309/LM216TEXPGUYDRUG

By:

Rosas, Ketlande;
Van Siclen, Carleen P.

Publication type:

Article

Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort.

Published in:

2016

By:

Mai, Phuong L.;
Best, Ana F.;
Peters, June A.;
DeCastro, Rosamma M.;
Khincha, Payal P.;
Loud, Jennifer T.;
Bremer, Renée C.;
Rosenberg, Philip S.;
Savage, Sharon A.;
Bremer, Renée C

Publication type:

journal article

Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers.

Published in:

Cancer (0008543X), 2014, v. 120, n. 7, p. 1068, doi. 10.1002/cncr.28507

By:

Hettmer, Simone;
Archer, Natasha M.;
Somers, Gino R.;
Novokmet, Ana;
Wagers, Amy J.;
Diller, Lisa;
Rodriguez‐Galindo, Carlos;
Teot, Lisa A.;
Malkin, David

Publication type:

Article

Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil.

Published in:

Cancer (0008543X), 2013, v. 119, n. 24, p. 4341, doi. 10.1002/cncr.28346

By:

Giacomazzi, Juliana;
Selistre, Simone G.;
Rossi, Cristina;
Alemar, Barbara;
Santos‐Silva, Patricia;
Pereira, Fernando S.;
Netto, Cristina B.;
Cossio, Silvia L.;
Roth, Daniela E.;
Brunetto, Algemir L.;
Zagonel‐Oliveira, Marcelo;
Martel‐Planche, Ghyslaine;
Goldim, Jose R.;
Hainaut, Pierre;
Camey, Suzi A.;
Ashton‐Prolla, Patricia

Publication type:

Article